Friday, January 15, 2016

1 IN 900

I used to find comfort in numbers. That is, until I was "the 1."

There are new DNA tests called non-invasive prenatal tests (NIPT) that can detect chromosome abnormalities through a simple blood test from the mother. They have been around for a few years but were mostly used for high-risk women over 35. Now, doctors seem to be offering them up to everyone. The benefit? Finding out your baby's gender as early as 12 weeks.

The Tuesday before Thanksgiving, I took the Verifi by Progenity test after a great checkup. The heartbeat was strong at 130 bpm and James and I were on cloud 9. We had made it -- the second trimester.

We announced our pregnancy to our family on Thanksgiving and I finally started feeling like I was in the clear after months of worry and stress. This pregnancy was actually happening and I was bursting at the seams. James and I were having another baby.

I made specific instructions for the nurse to put the gender results in an envelope so James and I could go out to a nice dinner and open it together. I even called a week later to make sure it was written in my paperwork so they didn't accidentally tell me over the phone. I was obsessed with making the gender reveal a moment for us to remember since we waited to find out with Joe.
I was supposed to get the results after 10 days. At 2 weeks I followed up and was told they are behind due to Thanksgiving. And so I waited...I was promised Thursday, then Friday, then Monday at the latest. They said it was late because there was an error at the lab and they needed to rerun my blood. 3 weeks later on December 15th, I received a call from the nurse.
"Your Verifi results have come in and the doctor would like to see you."
That was the moment my world stopped.

I waited for James to meet me at the doctor's office. I couldn't face this alone. The receptionist knew we were coming and immediately took us to a separate room. We waited for 1 hour in one of those stress test rooms...the tests I had to take when Joe was overdue. The room spun and I was completely hysterical. No one came to check on us. James just held me tight as I sobbed in his arms. He eventually got up and made a scene in the hallway demanding we see a doctor. It was the longest hour of my life.

A nurse finally came into the room and told us to pull it together because she needed to take us to an exam room. As we followed her, we walked right in front of my doctor who saw us coming and looked down to continue typing on her computer. She didn't make eye contact with us.

We then sat in the exam room for another 45 minutes, which means she went to see other patients during that time. I could hear the echoes of heart beats through the thin walls -- joyful moms with their healthy babies. She finally came into the room looking nervous and quickly blurted out the words...
"I'm sorry, your baby has Trisomy 21."
I can't even describe how it felt to hear those words. A million thoughts went through my head at once and I struggled to be able to find enough air to keep breathing. She explained that there was a 20% chance that it was a false positive, and that I needed to have an amnio test done to confirm the results. "However, I have never seen a false positive with Verifi and Trisomy 21," she said.
I didn't understand how this was possible. I am 30 years old and healthy. Joe is perfect. I was supposed to be a baby maker. This wasn't even on my radar as a concern. I had a 1 in 900 chance to have a baby with Down syndrome. That is a 0.1% chance. This was something that happens to somebody else, not me.

Then, in the middle of tears, confusion and pain, she asked if we wanted to know the gender.

"You're having a girl." I didn't think the pain could get worse.The doctor told us Down syndrome babies could live a happy life but there are many risks to their health due to the extra chromosome. She had only delivered 5 Trisomy 21 babies in her career, her other patients terminated. As if that was supposed to make us feel better.So there we were with 2 heartbreaking options: have a baby with Down syndrome or terminate the pregnancy. I felt myself float above the conversation trying to paint a picture of our daughter's face in my mind.

They don't perform amnio tests until 16 weeks. I was 15 weeks 3 days and the following week was Christmas. The earliest I could have the test done to confirm Trisomy 21 was December 28th. James and I agreed that we needed to go into the amnio with a plan, so that gave us exactly 2 weeks to make the hardest decision of our lives. We left the office without any other information. I was expecting a folder or packet titled "Here's what to do next."

The days following the diagnosis were a blur. My parents came to help with Joe and I barely got out of bed. This was a pain unlike anything I had ever felt. I would lay for hours in the shower scream-crying, begging for God's mercy. I was devastated, angry, confused and completely lost. I was mourning the loss of the child and life I thought I'd have.

I decided that I needed to gather as much information as possible so I was armed with facts. I had no other option... I had to do it for my daughter. I started researching medical journals, articles and blogs. I reached out to the Director of the Down Syndrome Association of Middle Tennessee for more information. I met with families that have children with Down syndrome. I learned about state services and programs.

I researched termination. I met with my doctor to get all the information I could on the procedure and the risks. I found online boards of women who terminated due to medical reasons and read their personal stories for hours.
I was obsessed with getting information. It was the only thing I could control.
I'm going to be completely honest and tell you all that I was split 50-50. I wished I had a strong feeling one way or another. And while you can sit at your computer reading this and pass judgements, the truth is, you don't know what you would do until it's happening to you. I found myself asking friends and family for advice and I was shocked at the quick answers I received as if it were an easy, black and white decision. People I was sure would say keep said terminate, and others I thought would say terminate told me to keep. I was defensive and I found myself always arguing the opposite position. Religious beliefs were involved. Politics were involved. And my daughter's life was talked about like it was easily disposable.

I had a handful of friends that told me they didn't know what they would do and I found so much comfort in that. They texted me throughout the day to see how I was doing and where my head was at that moment. They sat on the phone with me for hours, listening to me cry. We talked through different scenarios trying to figure out an "answer."

James and I did a lot of soul searching. We went to dark places and then even darker places. We met with a grief counselor, twice. I needed a third-party, unbiased mediator to help us talk through this nightmare. After 2 sessions he looked at us and said, "There is no right answer. You just have to pick one, get the support you need and try to move forward."

I fully convinced then talked myself out of both choices every single day. In one moment I thought I was meant to be a mother of a child with disabilities. I'm vocal, passionate and I could be her biggest advocate. I could get involved in the community. I could be that Director of the Down Syndrome Association. I could be the one to connect families in their time of need. But in the next minute I looked at the facts. Most of us have an image of a Down syndrome person as the actress from Glee (or at least I did). High-functioning, happy and independent. The truth is, it is a very wide spectrum. Trisomy 21 can have a range of health issues and learning disabilities including severe heart defects, Leukemia, autism, Dementia, digestion issues, thyroid problems and hearing & vision loss, to name a few. Some never learn to walk or talk.

How would I feel bringing her into this world only to watch her suffer through multiple heart surgeries or chemo? What would happen to her after James and I die? What does this mean for Joe and the responsibilities he would have for his sister? A family we met with told us most families in the Down syndrome community have 3 kids so the burden isn't solely on 1 child. I cried for hours trying to process that for Joe's life.

I came to the conclusion that Down syndrome alone is just too gray. I couldn't make this decision. I wasn't God. No mother should ever have to be in this position. I love my daughter with every piece of my heart. I only want the best for her. I wished I had never taken the NIPT test. I wished I had miscarried early on. I wished she had one of the other Trisomies...the ones that are incompatible with life. I knew both choices would change my life forever. Both choices would come with guilt, pain and regret. Neither choice would be an easy path.
I desperately looked for signs trying to find direction. I held tight to hope that we would be the 1 in 5 false positive. It was my only way out. I prayed harder than I ever have in my life. I begged friends and family to keep praying. I got on my knees every day and asked for God to give us this miracle.
I went into the amnio test without a plan. I was filled with so much information yet still completely lost. I had 2 things scheduled on my calendar for January: a meeting with the Director to welcome me into the Down syndrome community and the termination. Even without a plan, I was prepared both ways.
The amnio test started with an ultra sound. I asked the technician to be very vocal as she went through her measurements. I needed information. She started with the heartbeat. It was strong at 140 bpm. She then moved to the nuchal fold, which is a Down syndrome indicator on the back of the neck. She explained that a healthy baby's nuchal fold is under 6mm, a Down syndrome baby's is 6-8mm, and our daughter's was 12mm.
The last bit of hope was sucked out of my chest like a vacuum. I felt like I lost her all over again. Our baby had Down syndrome and we didn't need any more tests to confirm it. James and I grabbed each other's hand and sobbed as she continued with ultra sound pointing out more and more issues as she went.
The high-risk doctor came into the room and sat on the bed beside me. She grabbed my hand with tears in her eyes and asked me where we were at in this process. I tried to explain the agony we had endured the past 2 weeks and the choices that had been swirling in our heads. She nodded and said "Let's walk through the ultra sound together." She pointed out that the nuchal fold was double the size of a normal baby, which means she had a lot of extra fluid. The nuchal fold extended beyond her neck, down her back and around her belly. There were pockets of fluid inside her body. Her organs were taking on fluid and starting to shut down. Her legs stopped growing 2 weeks ago. My placenta wasn't fused with the amniotic sac and an amnio test couldn't even be performed without severe risks to me. How could so much be wrong with my precious baby? It didn't seem possible.
The doctor told us that it is medically impossible for our baby to survive much longer with this much fluid in her body. She told us that even if she did make it to delivery, she would not be born alive. She squeezed my hand tight and told me that the decision had already been made for us. The woman that delivered the worst news possible somehow gave me the comfort I needed in that moment.We could wait for the baby to pass on her own, or we could choose to end the pregnancy. She said that while extremely difficult, a termination at this point in my pregnancy was a much safer option for me. Waiting for her to pass several weeks later would increase my chance of infection, hemorrhaging and other medical issues.
A wave a relief rushed over me, and then a wave of deep, deep pain quickly followed. None of this was fair. I was going to have to say goodbye to my daughter that I so desperately loved.